ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys) (rs201236317)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214466 SCV000270223 likely benign not specified 2015-02-19 criteria provided, single submitter clinical testing p.Gln345Lys in exon 7 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.2% (135/66722) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201236317), and the glutamine (Gln) residue at position 345 is not evol utionarily conserved across species, with many species having a lysine (Lys) at this position.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725783 SCV000339347 uncertain significance not provided 2016-02-12 criteria provided, single submitter clinical testing
GeneDx RCV000725783 SCV000981400 likely benign not provided 2018-05-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000725783 SCV001216383 uncertain significance not provided 2020-10-08 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 345 of the ADGRV1 protein (p.Gln345Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. This variant is present in population databases (rs201236317, ExAC 0.2%). This variant has not been reported in the literature in individuals with ADGRV1-related disease. ClinVar contains an entry for this variant (Variation ID: 227388). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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